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Reprogramming neurodegeneration in the big data era
برنامه ریزی مجدد نورونها دوران داده های بزرگ-2018 Recent genome-wide association studies (GWAS) have
identified numerous genetic risk variants for late-onset
Alzheimer’s disease (AD) and Parkinson’s disease (PD).
However, deciphering the functional consequences of GWAS
data is challenging due to a lack of reliable model systems to
study the genetic variants that are often of low penetrance and
non-coding identities. Pluripotent stem cell (PSC) technologies
offer unprecedented opportunities for molecular phenotyping
of GWAS variants in human neurons and microglia. Moreover,
rapid technological advances in whole-genome RNA
sequencing and epigenome mapping fuel comprehensive and
unbiased investigations of molecular alterations in PSC
derived disease models. Here, we review and discuss how
integrated studies that utilize PSC technologies and genome
wide approaches may bring new mechanistic insight into the
pathogenesis of AD and PD.
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